Associated Papers
Homozygous loss of function variant in LMNB2 gene causes major brain malformation and perinatal death.
Desgrouas C et al.
Journal of Medical Genetics, 2025
A novel biallelic LMNB2 variant in a patient with progressive myoclonus epilepsy and ataxia: A case of laminopathy.
Farajzadeh Valilou S et al.
Clinical Case Reports, 2021
Heterozygous lamin B1 and lamin B2 variants cause primary microcephaly and define a novel laminopathy.
Parry DA et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2021
33033404 (PubMed )
Supplement: 41436_2020_980_MOESM1_ESM.pdf
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